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Shlyakhtunov E.A., Semenov V.M.
Molecular and genetic diagnosis of minimal residual disease in oncohematology

The article presents the review of modern literature on the issues of  molecular and genetic diagnosis of minimal residual disease in hematologic malignancies. Nowadays, high sensitivity tests based on DNA, RNA and proteins detection can identify minimum levels of tumor cells in tissue samples with sensitivity – one tumor cell per million normal cells. Tumor cells may be identified by means of detecting specific nucleotide successions of genes that may be either specific for the particular tumor or may be determined in various tumor tissues, but they are never revealed in normal cells. The opportunities of polymerase chain reaction (PCR) in the identification of different tumor - associated genes, genetic damages (translocations), accompanying the development of a number of leukemias have been grounded. Most often detected genes translocations are: for acute lymphoblastic leukemia t(9; 22) mi-BCR–ABL, t(12; 21) TEL–AML1; for acute myeloid leukemia t(15; 17) PML–RARA; for chronic leukemia t(9; 22) BCR–ABL and others. Their clinical significance and prognostic value in acute and chronic leukemias have been determined. Using PCR it is possible to detect the specified genes directly in the peripheral blood, purified leukocytes, sternal punctate. The researches aimed at studying the expression of tumor - associated genes are promising and relevant for individualization of treatment strategy of patients suffering from malignant hematopoietic tumors.
Key words: molecular and genetic diagnosis, minimal residual disease, leukemia.


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